Human Molecular Genetics Advance Access originally published online on March 25, 2008
Human Molecular Genetics 2008 17(13):1988-1993; doi:10.1093/hmg/ddn096
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Published by Oxford University Press 2008
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls
1 Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA 2 Unidad de Genética Molecular, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia-CSIC 46010, Valencia, Spain 3 Department of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA
* To whom correspondence should be addressed at: Laboratory of Neurogenetics, NIA IRP NIH, Room 1A1014, Building 35, 35 Lincoln drive, Bethesda, MD 20892, USA. Tel: +1 3014516079; Fax: +1 3014515466; Email: singleta{at}mail.nih.gov
Received February 5, 2008; Revised March 3, 2008; Accepted March 19, 2008
A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a series of 644 North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls. Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Lesage and A. Brice Parkinson's disease: from monogenic forms to genetic susceptibility factors Hum. Mol. Genet., April 15, 2009; 18(R1): R48 - R59. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Bras, J. Simon-Sanchez, M. Federoff, A. Morgadinho, C. Januario, M. Ribeiro, L. Cunha, C. Oliveira, and A. B. Singleton Lack of replication of association between GIGYF2 variants and Parkinson disease Hum. Mol. Genet., January 15, 2009; 18(2): 341 - 346. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Yun, J. H. Cao, M. W. Dodson, I. E. Clark, P. Kapahi, R. B. Chowdhury, and M. Guo Loss-of-Function Analysis Suggests That Omi/HtrA2 Is Not an Essential Component of the pink1/parkin Pathway In Vivo J. Neurosci., December 31, 2008; 28(53): 14500 - 14510. [Abstract] [Full Text] [PDF]
|
|